rs1057517492

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057517492(C;T)

Make rs1057517492(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53211019

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs1057517492
dbSNP (classic)	rs1057517492
ClinGen	rs1057517492
ebi	rs1057517492
HLI	rs1057517492
Exac	rs1057517492
Gnomad	rs1057517492
Varsome	rs1057517492
LitVar	rs1057517492
Map	rs1057517492
PheGenI	rs1057517492
Biobank	rs1057517492
1000 genomes	rs1057517492
hgdp	rs1057517492
ensembl	rs1057517492
geneview	rs1057517492
scholar	rs1057517492
google	rs1057517492
pharmgkb	rs1057517492
gwascentral	rs1057517492
openSNP	rs1057517492
23andMe	rs1057517492
SNPshot	rs1057517492
SNPdbe	rs1057517492
MSV3d	rs1057517492
GWAS Ctlg	rs1057517492

Max Magnitude

0

ClinVar
Risk	rs1057517492(T;T)
Alt	rs1057517492(T;T)
Reference	Rs1057517492(C;C)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53676691C>T
CLNSRC
CLNACC	RCV000409596.1, RCV000411103.1, RCV000411620.1,